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Symbol ELN contributors: mct - updated : 22-09-2017
HGNC name elastin
HGNC id 3327
corresponding disease(s) ADCL1 , SVAS , WBS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion    
contributing to increased proliferation of fetal aortic smooth muscle cells and arterial stenoses (in WBS or SVAS)
tumoral fusion      
fused with PAX5 by t(7;9)(q11;p13) translocation in B-cell acute lymphoblastic leukemia (B-ALL) (Bousquet 2007)
constitutional     --over  
enhanced alveolar elastin expression in very severe in chronic obstructive pulmonary disease
constitutional       loss of function
causes vascular stiffening, a leading risk for hypertension and chronic kidney disease (CKD)
constitutional       loss of function
causes augmented AGT -induced vasoconstriction in part through a novel mechanism that facilitates contraction evoked by AGTR2 and altered G protein signaling
  • to intracranial aneurysm (IA)
  • to neovascular age-related macular degeneration (AMD)
  • Variant & Polymorphism SNP
  • 3'-UTR G(+659)C SNP has the strongest association to intracranial aneurysm
  • ELN variant INT20 1315T > C is implicated in the development of IA
  • significant association was detected between the rs2301995 SNP and AMD
  • Candidate gene
    Therapy target FBLN5 and ELN are potential targets for the regeneration of elastic fibers
  • murine Eln(-)(/)(-) aorta has a smaller unloaded diameter and thicker wall because of smooth muscle cell overproliferation and has greatly reduced compliance